rs118204100, HMBS

N. diseases: 1
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Acute intermittent porphyria
CUI: C0162565
Disease: Acute intermittent porphyria
68 1.000 0.160 11 119091507 stop gained G/A snv 0.720 1.000 2 1994 2000